S52N (p.Ser52Asn) variant of GATA5 (Transcription factor GATA-5)
S52N (p.Ser52Asn) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- TOPMed rs781995328
- gnomAD rs781995328
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.33
- MetaLR 0.88
- MetaSVM 0.45
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available